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Hemoglobin Koln: direct analysis of the gene mutation by synthetic DNA probes

J Horst, R Oehme and E Kohne

The molecular defect leading to Hb Koln has been analyzed by synthetic oligonucleotides. Thus, DNA of 19 nucleotides, in length corresponding to the normal and mutant beta-globin gene sequences, were used to develop a direct assay for the beta k-gene that codes for this most common form of the unstable hemoglobins. The use of synthetic oligonucleotides established that the Hb Koln mutation is due to a G-to- A transition. The conditions described here should result in the determination of all Hb Koln genotypes with a high level of confidence.

Volume 68, Issue 5, pp. 1175-1177, 11/01/1986
Copyright © 1986 by The American Society of Hematology


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  Copyright © 1986 by American Society of Hematology         Online ISSN: 1528-0020